リ・フラウメニ症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Indel	NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs)	TP53	Pathogenic	17	7579716	7579719	GGAA	ACGTTCTT	criteria provided, single submitter	ClinGen:CA000409
single nucleotide variant	NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	TP53	Pathogenic	17	7578212	7578212	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000301
single nucleotide variant	NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	TP53	Pathogenic	17	7578263	7578263	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000282
single nucleotide variant	NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)	TP53	Likely pathogenic	17	7573987	7573987	G	T	reviewed by expert panel	ClinGen:CA000022
single nucleotide variant	NM_000546.6(TP53):c.854A>T (p.Glu285Val)	TP53	Pathogenic	17	7577084	7577084	T	A	criteria provided, single submitter	UniProtKB:P04637#VAR_006025,OMIM:191170.0040,ClinGen:CA000463
single nucleotide variant	NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)	TP53	Pathogenic	17	7578190	7578190	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000314,UniProtKB:P04637#VAR_005959,OMIM:191170.0039
single nucleotide variant	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	TP53	Pathogenic/Likely pathogenic	17	7574017	7574017	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000013,UniProtKB:P04637#VAR_035016,OMIM:191170.0035
Deletion	NM_000546.6(TP53):c.532del (p.His178fs)	TP53	Pathogenic	17	7578398	7578398	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278880,OMIM:191170.0033
single nucleotide variant	NM_000546.6(TP53):c.412G>C (p.Ala138Pro)	TP53	Pathogenic/Likely pathogenic	17	7578518	7578518	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000166,UniProtKB:P04637#VAR_005881,OMIM:191170.0032
single nucleotide variant	NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	TP53	Likely pathogenic	17	7573996	7573996	A	G	reviewed by expert panel	ClinGen:CA000021,UniProtKB:P04637#VAR_045546,OMIM:191170.0031